Variant report

Variant	rs6114347
Chromosome Location	chr20:23842082-23842083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs6114337	0.92[AFR][1000 genomes]
rs6114338	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6114339	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6114340	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6114341	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs62194737	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62194756	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62194757	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62194758	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv912823	chr20:23756139-23847009	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv3336	chr20:23804081-23848943	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv833944	chr20:23806288-24021865	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv585730	chr20:23809681-23862844	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23833000-23846800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23839000-23842200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr20:23839000-23844200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr20:23839200-23847000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr20:23839400-23847000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr20:23841200-23842200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr20:23841200-23847600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr20:23841400-23847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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